Doll-like facies: symptom of a rare disease, learn more (2024)

*This computer-generated image is for illustration purposes only

Understanding face related symptoms and features.

Symptoms may affect multiple parts of the body. Understanding which part of the body a symptom affects, can help us to better understand the potential underlying causes of a symptom, including a rare disease or genetic syndrome.

The face contains the nose, eyes and mouth, all of which are sensory organs. The face also displays emotions and feelings and plays a crucial role in communication. The face runs from the forehead at the top, to the chin at the bottom and encompasses everything in between.

Symptoms affecting the face can for the most part be seen with the naked eye. Although diagnosing a face related symptom may involve different tests and assessments, both subjective and objective.

Symptoms relating to the face may affect its structure, shape and/ or function. Some features will affect just the appearance of the face while others may affect its ability to express emotions and to communicate non-verbally.

What are Doll-like facies?

Historically this definition referred to a unique facial appearance that included a round face, accompanied by full or fat cheeks, a short and smaller nose, as well as a small chin in comparison to the rest of the face.

This definition is no longer necessarily referred to, and instead clinicians are advised to identify, measure, and diagnose each facial feature separately.

What should I do next?

In some instances, doll-like facies may be one of the features of a rare disease or genetic syndrome. In this case fast, targeted genetic analysis can give you a more accurate diagnosis.

Synonyms:

Doll-like facial appearance

HPO:

0000295

Optional syndromes:

Fanconi-Bickel syndrom

Glycogen Storage Disease Ia (GSD1A)

Leukoencephalopathy, Cystic, Without Megalencephaly

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*This computer-generated image is for illustration purposes only

Synonyms:

Doll-like facial appearance

HPO:

0000295

Optional syndromes:

FDNA™ Health can help you with the diagnostic journey.

Learn about child developmental delays: Causes, Symptoms, and Therapies.
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More than 250,000 cases successfully analyzed

Explore the most detected symptoms in our system (numbers are global and based on the data from 120 countries):

*An isolated symptom does not meet the definition of a syndrome. A syndrome, by definition, is a group of signs and symptoms that occur together and form an identifiable pattern.

	Symptom Name	Total Detected*
	Hyperkenetic Movements	60,000+
	Rieger Anomaly	60,000+
	Restrictive Behavior	60,000+
	Restlessness	60,000+
	Respiratory Distress	60,000+
	Recurrent Infections	60,000+
	Feeding Difficulties	60,000+
	Feeding Difficulties in Infancy	60,000+
	Bruising Susceptibility	60,000+
	Skeletal Dysplasia	60,000+
	Limb Undergrowth	60,000+
	Inflexible Adherence to Routines or Rituals	60,000+
	Immunodeficiency	60,000+
	Hyporeflexia	60,000+
	Hypodontia	60,000+
	Hip Dysplasia	60,000+
	Psychom*otor Deterioration	60,000+
	Precocious Puberty	60,000+
	Poor Suck	60,000+
	Poor Head Control	60,000+
	Piebaldism	60,000+
	Pear-shaped Nose	60,000+
	Overfriendliness	60,000+
	Overbite	60,000+
	Mutism	60,000+
	Motor Tics	60,000+
	Mood Swings	60,000+
	Missing Ribs	60,000+
	Highly Arched Eyebrow	60,000+
	Generalized Joint Laxity	60,000+
	Gait Apraxia	60,000+
	Fragile Skin	60,000+
	Focal Behavior Arrest Seizure	60,000+
	Flat Forehead	60,000+
	Fixed Facial Expression	60,000+
	Fingernail Dysplasia	60,000+
	Finger Syndactyly	60,000+
	Failure to Thrive in Infancy	60,000+
	Facial Shape Deformation	60,000+
	Externally Rotated Hips	60,000+
	Ectrodactyly	60,000+
	Dystonia	60,000+
	Dyspnea	60,000+
	Broad Neck	60,000+
	Broad Face	60,000+
	Abnormality of the Outer Ear	60,000+
	Abnormality of the Genitourinary System	60,000+
	Abnormal Fear/Anxiety-related Behavior	60,000+
	Abnormal Emotion/Affect Behavior	60,000+
	Postnatal Growth Retardation	60,000+
	Abnormal Eating Behavior	60,000+
	Abnormal Aggressive, Impulsive or Violent Behavior	60,000+
	Tremor	60,000+
	Thickened Skin	60,000+
	Small for Gestational Age	60,000+
	Short Forearm	60,000+
	Neonatal Short-limb Short Stature	60,000+
	Myopathic facies	60,000+
	Malabsorption	60,000+
	Long Fingers	60,000+
	Large Forehead	60,000+
	Large Fleshy Ears	60,000+
	Large Beaked Nose	60,000+
	Language Impairment	60,000+
	Lack of Spontaneous Play	60,000+
	Lack of Peer Relationships	60,000+
	Joint hyper-flexibility	60,000+
	Incoordination	60,000+
	Microphthalmia	60,000+
	Mask-like Facies	60,000+
	Microglossia	60,000+
	Inability to Walk	60,000+
	Impaired Pain Sensation	60,000+
	Focal Sensory Seizure	60,000+
	Dyskinesia	60,000+
	Doll-like Facies	60,000+
	Disturbance of Facial Expression	60,000+
	Delayed Puberty	60,000+
	Deformed Rib Cage	60,000+
	Deep Palmer Crease	60,000+
	Abnormal Saccadic Eye Movements	60,000+
	Cerebral Palsy	60,000+
	Cranial Asymmetry	60,000+
	Corneal Asymmetry	60,000+
	Congenital, Generalized Hypertrichosis	60,000+
	Clubbing of Toes	60,000+
	Cleft of Chin	60,000+
	Cerebral Atrophy	60,000+
	Broad Skull	60,000+
	Blue Irides	60,000+
	Asymmetry of the Ears	60,000+
	Apraxia	60,000+
	Alopecia	60,000+
	Abnormality of Eye Movement	60,000+
	Abnormal Elasticity of Skin	60,000+
	Gait Disturbance	60,000+
	Dandy-Walker malformation	45,000+
	Coloboma	55,000+
	Optic Atrophy	50,000+
	Ventriculomegaly	45,000+
	Macroglossia	45,000+
	Low anterior hairline	55,000+
	Pulmonic stenosis	45,000+
	Microtia	40,000+
	Widely Spaced Teeth	70,000+
	Narrow Mouth	55,000+
	Aggressive Behavior	45,000+
	Patent ductus arteriosus	50,000+
	Tented upper lip vermilion	50,000+
	Agenesis of corpus callosum	45,000+
	Blepharophimosis	45,000+
	Clinodactyly	50,000+
	Proptosis	45,000+
	Broad Eyebrow	50,000+
	Hydrocephalus	55,000+
	Everted lower lip vermilion	40,000+
	Cupped Ear	70,000+
	Facial Asymmetry	45,000+
	Nystagmus	40,000+
	Mandibular Prognathia	50,000+
	Protruding Ear	50,000+
	Umbilical Hernia	55,000+
	Joint Laxity	40,000+
	Retrognathia	50,000+
	Behavioral Abnormality	70,000+
	Cataracts	50,000+
	Macrotia	45,000+
	Myopia	45,000+
	Autistic Behavior	45,000+
	Midface Retrusion	70,000+
	Gastroesophageal reflux	40,000+
	Hypospadias	60,000+
	Cryptorchidism	55,000+
	Pes Planus	55,000+
	Attention deficit hyperactivity disorder	45,000+
	Tall Stature	70,000+
	Single transverse palmar crease	55,000+
	Absent Speech	70,000+
	Hyperactivity	50,000+
	Deeply Set Eye	50,000+
	Pectus Excavatum	55,000+
	Synophrys	45,000+
	Broad Nasal Tip	50,000+
	Long Face	55,000+
	Atrial Septal Defect	45,000+
	Ventricular Septal Defect	60,000+
	Clinodactyly of the 5th finger	45,000+
	Joint Hypermobility	40,000+
	Telecanthus	55,000+
	Malar Flattening	50,000+
	Downturned Corners of Mouth	50,000+
	Obesity	70,000+
	Frontal Bossing	60,000+
	Wide Nasal Bridge	55,000+
	Neurological speech impairment
	Low-set ears	40,000+
	Triangular Mouth	35,000+
	Prominent Eyelashes (thick eyelashes)	60,000+
	Smooth Philtrum	55,000+
	Small Earlobe	45,000+
	Sleep Disturbance	50,000+
	Short Thumb	70,000+
	Short Neck	55,000+
	Short Nasal Bridge (short bridge of nose)	45,000+
	Short Attention Span	40,000+
	Sensory Impairment	70,000+
	Recurrent Viral Infections	45,000+
	Prominent Nasal Bridge	50,000+
	Open Mouth	55,000+
	Muscle Spasms	45,000+
	Long Eyebrows	70,000+
	Inappropriate Behavior	45,000+
	Hyperostosis (bone overgrowth)	70,000+
	Thick Eyebrows	55,000+
	Growth Delay (poor growth)	45,000+
	Cardiomyopathy (disease of the heart muscle)	55,000+
	Brittle Scalp Hair	70,000+
	Webbed Neck	40,000+
	Visual Impairment (poor eyesight)	45,000+
	Sparse Hair (decreased hair growth)	45,000+
	Short Nose (small nose)	45,000+
	Self-injurious behavior	60,000+
	Scoliosis (curving of the spine)	50,000+
	Plagiocephaly (Flat Head)	45,000+
	Hypoplastic Nasal Tip	50,000+
	Hypoplastic male external genitalia	45,000+
	Hypoplastic Fingernail	45,000+
	Hyperpigmentation of the skin	50,000+
	High Forehead	30,000+
	Hernia	55,000+
	Full Cheeks	45,000+
	Flared Nostrils	40,000+
	Finger Symphalangism	55,000+
	Craniofacial Asymmetry	45,000+
	Chronic Otitis Media	60,000+
	Cat Cry	20,000+
	Cafe-au-lait Spot	55,000+
	Bulbous Nose	50,000+
	Broad Thumb	50,000+
	Broad Forehead	70,000+
	Brachydactyly	70,000+
	Brachycephaly	45,000+
	Ataxia	70,000+
	Abnormal Facial Shape	60,000+
	Failure to Thrive	45,000+
	Global Developmental Delay	60,000+
	Hearing Impairment	70,000+
	High Palate	45,000+
	Narrow Forehead	45,000+
	Pierre Robin sequence	50,000+
	Pointed Chin	40,000+
	Polyphagia (Overeating)	45,000+
	Ptosis (Drooping Eyelid)	40,000+
	Seizures (epilepsy)	50,000+
	Short Stature	45,000+
	Sleep Apnea	45,000+
	Sparse/Absent Eyelashes	60,000+
	Hirsutism	45,000+
	Hypotonia	45,000+
	Infantile Axial Hypotonia	20,000+
	Intellectual Disability	40,000+
	Microcephaly	50,000+
	Motor Delay	50,000+
	Dyspnea	40,000+
	Delayed Speech and Language Development	70,000+
	Anteverted Nares	40,000+
	Low-set, posteriorly rotated ears	45,000+
	Abnormal Heart Morphology	50,000+
	Strabismus (cross eyes)	70,000+
	Talipes Equinovarus (clubfoot)	50,000+
	Thick Lower Lip Vermilion (full lower lip)	35,000+
	Thick Upper Lip Vermillion (full upper lip)	30,000+
	Toe Syndactyly (fused toes)	45,000+
	Wide Mouth	50,000+
	Deep-set Eyes	70,000+
	Corneal Opacity	45,000+
	Cognitive Impairment	55,000+
	Coarse Facies	45,000+
	Broad Toe	50,000+
	Absent Eyebrows	75,000+
	Abnormality of the skin	70,000+
	Depressed Nasal Ridge	70,000+
	Macrocephaly	65,000+
	Cleft Palate \| Cleft Lip	60,000+
	Dysphonia	55,000+
	Recurrent Otitis Media (Recurrent Ear Infections)	50,000+
	Autism Spectrum Disorder	45,000+
	Epicanthus \| Epicanthal Folds	40,000+
	Long Palpebral Fissures (long opening between the eyelids, strange eye shape)	100,000+
	Depressed Nasal Bridge (depressed bridge of nose)	40,000+
	Hypertelorism (widely-spaced eyes)	50,000+
	Deep Philtrum \| Long Philtrum	35,000+
	Triangular Face	120,000+
	Down Slanted Palpebral Fissures (crying, sad eyes)	200,000+

* Total Detected is based on data from FDNA.com. The numbers represent a showing of a symptom as a suggested symptom in our AI tool.

"Our road to diagnose the cause for our child's developmental delays was a 5-year journey that I can only describe as trying to take a road trip with no map. Now we have hope."

Paula and Bobby
Parents of Lillie

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Doll-like facies: symptom of a rare disease, learn more (2024)

FAQs

What is the doll like face syndrome? ›

The facial appearance of people with Smith-Magenis syndrome changes with age; in infancy it is described as 'doll like' or cherubic but it is described as coarsening with age. Other physical features include short, broad hands, short stature and a hoarse, deep voice.

View Details ›

What causes a doll like face? ›

Continued low blood sugar can lead to delayed growth and development and muscle weakness. Affected children typically have doll-like faces with fat cheeks, relatively thin extremities, short stature, and protuberant abdomen. High lipid levels can lead to the formation of fatty skin growths called xanthomas.

Keep Reading ›

What does it mean to have a doll like face? ›

A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin. [

Learn More Now ›

What does it mean if someone has a doll face? ›

noun. : a person having a face with a smooth prettiness and childish expression suggestive of a doll.

Show Me More ›

What is the syndrome that makes your face look weird? ›

For those who have a very rare condition known as prosopometamorphopsia, which causes facial features to appear distorted, that is reality.

Keep Reading ›

How do you tell if you have a doll face? ›

Ok, so one face type we're probably all familiar with is the reality TV doll face look, and this seems to have filtered down through social media too. So, what does Dr Frati determine as the 'doll face'? He recognises characteristics such as a small nose, lips plumed to the max, and high, plump cheeks.

Show Me More ›

Do I have doll-like features? ›

What are Doll-like facies? Historically this definition referred to a unique facial appearance that included a round face, accompanied by full or fat cheeks, a short and smaller nose, as well as a small chin in comparison to the rest of the face.

What is Barbie doll syndrome? ›

Body dysmorphic disorder, sometimes known as “Barbie doll syndrome” or “Barbie syndrome,” is characterized by an obsession with attaining an unrealistic ideal of beauty, such as that of a Barbie doll. Because of this, many young women experience emotional and psychological distress.

Explore More ›

What does someone with Angelman syndrome look like? ›

Adults with Angelman syndrome have distinctive facial features that may be described as "coarse ." Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (scoliosis ). The life expectancy of people with this condition appears to be nearly normal.

View Details ›

What is the Kabuki syndrome face? ›

The symptoms and features of Kabuki syndrome can vary widely from child to child. No child will have all of the symptoms. distinctive facial features, including arched eyebrows, elongated and wide-set eyes, thick eyelashes, flat nasal tip, and large ears.

Learn More Now ›

What is the doll syndrome? ›

Doll Syndrome (ドール症候群) is a mysterious medical condition that causes a person to fall into an unresponsive state (like that of a doll, hence the name). Not much is known, although it has been affecting children as young as elementary school.

Tell Me More ›

What is Barbie syndrome? ›

"Barbie syndrome"

A person with Barbie syndrome attempts to emulate the doll's physical appearance, even though the doll has unattainable body proportions. This syndrome is seen as a form of body dysmorphic disorder and results in various eating disorders as well as an obsession with cosmetic surgery.

Tell Me More ›

Doll-like facies: symptom of a rare disease, learn more (2024)

Understanding face related symptoms and features.

What are Doll-like facies?

What should I do next?

Synonyms:

HPO:

Optional syndromes:

Synonyms:

HPO:

Optional syndromes:

FDNA™ Health can help you with the diagnostic journey.

"Our road to diagnose the cause for our child's developmental delays was a 5-year journey that I can only describe as trying to take a road trip with no map. Now we have hope."

What is FDNA Health?

Benefits of FDNA Health

FDNA™ Health can bring you closer to a diagnosis.Learn here about symptoms and conditions and contact your clinician.

FAQs

What is the doll like face syndrome? ›

What is Barbie doll syndrome? ›

FDNA™ Health can bring you closer to a diagnosis.
Learn here about symptoms and conditions and contact your clinician.